Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 7
Results: 14
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1075, doi. 10.1093/hmg/9.7.1075
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- Article
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1021, doi. 10.1093/hmg/9.7.1021
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- Article
Sequential deletion of C-terminal amino acids of the E[sub 1] α component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E[sub 1] α [sub 2] β [sub 2] tetramers: implications for pati...
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1041, doi. 10.1093/hmg/9.7.1041
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- Article
Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1059, doi. 10.1093/hmg/9.7.1059
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- Article
LMX1B transactivation and expression in nail-patella syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1067, doi. 10.1093/hmg/9.7.1067
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- Article
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1087, doi. 10.1093/hmg/9.7.1087
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- Article
Genome-wide scan for adult onset primary open angle glaucoma.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1109, doi. 10.1093/hmg/9.7.1109
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- Article
Single nucleotide polymorphism and linkage disequilibrium within the TCR α /δ locus.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1011, doi. 10.1093/hmg/9.7.1011
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- Article
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1049, doi. 10.1093/hmg/9.7.1049
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- Article
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1119, doi. 10.1093/hmg/9.7.1119
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- Article
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1093, doi. 10.1093/hmg/9.7.1093
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- Article
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca[sup 2+] pump.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1131, doi. 10.1093/hmg/9.7.1131
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- Article
Expression of arylamine N -acetyltransferases in pre-term placentas and in human pre-implantation embryos.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1101, doi. 10.1093/hmg/9.7.1101
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- Article
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1033, doi. 10.1093/hmg/9.7.1033
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- Article